Canonical Allele Identifier: CA403083845
Gene: MCOLN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.7592772T>A (hg19) chr19:g.7527886T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527886T>A , CM000681.2:g.7527886T>A GRCh38
NC_000019.9:g.7592772T>A , CM000681.1:g.7592772T>A GRCh37
NC_000019.8:g.7498772T>A NCBI36
NG_015806.1:g.10277T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.703T>A MANE Select ENSP00000264079.5:p.Phe235Ile
ENST00000264079.10:c.703T>A ENSP00000264079.5:p.Phe235Ile
ENST00000394321.9:n.1018T>A
ENST00000601003.1:c.594T>A ENSP00000469074.1:p.Thr198=
NM_020533.2:c.703T>A NP_065394.1:p.Phe235Ile
NM_020533.3:c.703T>A MANE Select NP_065394.1:p.Phe235Ile
Search 100 bp 5'
Search 100 bp 3'